Canonical Allele Identifier: CA3249309009

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792326_214792328del , CM000664.2:g.214792326_214792328del	GRCh38
NC_000002.11:g.215657050_215657052del , CM000664.1:g.215657050_215657052del	GRCh37
NC_000002.10:g.215365295_215365297del	NCBI36
NG_012047.2:g.22377_22379del
NG_012047.3:g.22384_22386del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.333_335del MANE Select	NP_000456.2:p.Arg112del
ENST00000260947.9:c.333_335del MANE Select	ENSP00000260947.4:p.Arg112del
NM_000465.3:c.333_335del	NP_000456.2:p.Arg112del
NM_001282543.1:c.276_278del	NP_001269472.1:p.Arg93del
NM_001282543.2:c.276_278del	NP_001269472.1:p.Arg93del
NM_001282545.1:c.215+4733_215+4735del	NP_001269474.1:n.215+4733_215+4735del
NM_001282545.2:c.215+4733_215+4735del	NP_001269474.1:n.215+4733_215+4735del
NM_001282548.1:c.158+17084_158+17086del	NP_001269477.1:n.158+17084_158+17086del
NM_001282548.2:c.158+17084_158+17086del	NP_001269477.1:n.158+17084_158+17086del
NM_001282549.1:c.333_335del	NP_001269478.1:p.Arg112del
NM_001282549.2:c.333_335del	NP_001269478.1:p.Arg112del
NR_104212.1:n.357+4733_357+4735del
NR_104212.2:n.329+4733_329+4735del
NR_104215.1:n.301-10819_301-10817del
NR_104215.2:n.273-10819_273-10817del
NR_104216.1:n.475_477del
NR_104216.2:n.447_449del
ENST00000260947.8:c.333_335del	ENSP00000260947.4:p.Arg112del
ENST00000421162.1:c.215+4733_215+4735del	ENSP00000392245.1:n.215+4733_215+4735del
ENST00000421162.2:c.215+4733_215+4735del	ENSP00000392245.2:n.215+4733_215+4735del
ENST00000455743.5:c.215+4733_215+4735del	ENSP00000412186.1:n.215+4733_215+4735del
ENST00000471787.1:n.260-10819_260-10817del
ENST00000613192.1:c.73+17084_73+17086del	ENSP00000483275.1:n.73+17084_73+17086del
ENST00000613192.2:c.158+17084_158+17086del	ENSP00000483275.2:n.158+17084_158+17086del
ENST00000613374.4:c.158+17084_158+17086del	ENSP00000484464.1:n.158+17084_158+17086del
ENST00000613374.5:c.158+17084_158+17086del	ENSP00000484464.1:n.158+17084_158+17086del
ENST00000613706.4:c.215+4733_215+4735del	ENSP00000484976.1:n.215+4733_215+4735del
ENST00000613706.5:c.333_335del	ENSP00000484976.2:p.Arg112del
ENST00000617164.4:c.276_278del	ENSP00000480470.1:p.Arg93del
ENST00000617164.5:c.276_278del	ENSP00000480470.1:p.Arg93del
ENST00000619009.4:c.333_335del	ENSP00000482293.1:p.Arg112del
ENST00000619009.5:c.333_335del	ENSP00000482293.1:p.Arg112del
ENST00000620057.4:c.333_335del	ENSP00000481988.1:p.Arg112del
ENST00000650978.1:c.175_177del
XM_011511567.1:c.279_281del	XP_011509869.1:p.Arg94del
XM_011511568.1:c.333_335del	XP_011509870.1:p.Arg112del
XM_017004613.1:c.432_434del	XP_016860102.1:p.Arg145del
XM_017004614.1:c.432_434del	XP_016860103.1:p.Arg145del
XR_002959322.1:n.523_525del